A9T (p.Ala9Thr) variant of IDUA (Alpha-L-iduronidase)
A9T (p.Ala9Thr) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- gnomAD 4-987109-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0786
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available